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Neuroradiological Findings in the Spinocerebellar Ataxias

Meira, Alex Tiburtino; Arruda, Walter Oleschko; Ono, Sergio Eiji; de Carvalho Neto, Arnolfo; Raskin, Salmo; Camargo, Carlos Henrique F.; Teive, Hélio Afonso G.

Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia. Classified according to gene discovery, specific features of the SCAs – clinical, laboratorial, and neuroradiological (NR) – can facilitate establishing the diagnosis. The purpose of this study was to review the particular NR abnormalities in the main SCAs.

Methods: We conducted a literature search on this topic.

Results: The main NR characteristics of brain imaging (magnetic resonance imaging or computerized tomography) in SCAs were: (1) pure cerebellar atrophy; (2) cerebellar atrophy with other findings (e.g., pontine, olivopontocerebellar, spinal, cortical, or subcortical atrophy; “hot cross bun sign”, and demyelinating lesions); (3) selective cerebellar atrophy; (4) no cerebellar atrophy.

Discussion: The main NR abnormalities in the commonest SCAs, are not pathognomonic of any specific genotype, but can be helpful in limiting the diagnostic options. We are progressing to a better understanding of the SCAs, not only genetically, but also pathologically; NR is helpful in the challenge of diagnosing the specific genotype of SCA.

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Also Published In

Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/tohm.v0.682

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
December 17, 2019